| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68423568G>C | CA381620729 | LRP5 | c.3107G>C (p.Arg1036Pro) c.*1713G>C (n.*1713G>C) c.1364G>C (p.Arg455Pro) c.3134G>C (p.Arg1045Pro) n.3149G>C c.647G>C (p.Arg216Pro) | dbSNP |
| 11 | g.68423568G>A | CA210921 | LRP5 | c.3107G>A (p.Arg1036Gln) c.*1713G>A (n.*1713G>A) c.1364G>A (p.Arg455Gln) c.3134G>A (p.Arg1045Gln) n.3149G>A c.647G>A (p.Arg216Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68423568G>T | CA6149851 | LRP5 | c.3107G>T (p.Arg1036Leu) c.*1713G>T (n.*1713G>T) c.1364G>T (p.Arg455Leu) c.3134G>T (p.Arg1045Leu) n.3149G>T c.647G>T (p.Arg216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |